Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targ...

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Hlavní autoři: Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4067565/
https://ncbi.nlm.nih.gov/pubmed/24726472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.013
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